Linked Data
ClinVar Variation Id:
220266
dbSNP Id:
rs772684105
ExAC:
10:43615130 G / A
gnomAD v2:
10-43615130-G-A
gnomAD v3:
10-43119682-G-A
gnomAD v4:
10-43119682-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119682G>A , CM000672.2:g.43119682G>A | GRCh38 |
| NC_000010.10:g.43615130G>A , CM000672.1:g.43615130G>A | GRCh37 |
| NC_000010.9:g.42935136G>A | NCBI36 |
| NG_007489.1:g.47614G>A , LRG_518:g.47614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2148G>A | ENSP00000480088.2:p.Met716Ile | |
| ENST00000683007.1:n.2118G>A | ||
| ENST00000683872.1:n.2109G>A | ||
| ENST00000340058.6:c.2544G>A | ENSP00000344798.4:p.Met848Ile | |
| ENST00000355710.8:c.2544G>A MANE Select | ENSP00000347942.3:p.Met848Ile | |
| ENST00000671844.1:c.*1138G>A | ENSP00000500541.1:n.*1138G>A | |
| ENST00000672389.1:c.*1138G>A | ENSP00000500252.1:n.*1138G>A | |
| ENST00000340058.5:c.2544G>A | ENSP00000344798.4:p.Met848Ile | |
| ENST00000355710.7:c.2544G>A | ENSP00000347942.3:p.Met848Ile | |
| ENST00000615310.4:c.1290-20G>A | ENSP00000480088.1:n.1290-20G>A | |
| NM_020630.4:c.2544G>A , LRG_518t2:c.2544G>A | NP_065681.1:p.Met848Ile | |
| NM_020975.4:c.2544G>A , LRG_518t1:c.2544G>A | NP_066124.1:p.Met848Ile | |
| XM_011540027.1:c.2544G>A | XP_011538329.1:p.Met848Ile | |
| NM_001355216.1:c.1782G>A | NP_001342145.1:p.Met594Ile | |
| NM_020630.5:c.2544G>A | NP_065681.1:p.Met848Ile | |
| NM_020975.5:c.2544G>A | NP_066124.1:p.Met848Ile | |
| NM_020975.6:c.2544G>A MANE Select | NP_066124.1:p.Met848Ile | |
| NM_020630.6:c.2544G>A | NP_065681.1:p.Met848Ile |